ClinVar Miner

Variants studied for Bartter syndrome type 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
35 33 166 37 48 313

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CLCNKB, LOC106501713 17 22 100 21 24 183
BSND 14 7 41 14 12 83
CLCNKA, LOC106501712 2 3 11 1 10 27
CLCNKB 2 1 11 1 1 16
CLCNKA 0 0 2 0 0 2
BSND, LOC129930596 0 0 0 0 1 1
COL12A1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 22 23 122 36 3 206
Genome-Nilou Lab 1 0 0 0 39 40
Illumina Laboratory Services, Illumina 1 1 22 2 12 38
OMIM 10 0 0 0 0 10
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 4 6 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 4 0 0 7
Revvity Omics, Revvity 1 2 2 0 0 5
Baylor Genetics 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Mendelics 1 0 1 0 1 3
Wonkam Laboratory, Johns Hopkins University 1 1 1 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Laboratory of Molecular Genetics, CHU Rennes 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 2
3billion 1 0 0 0 0 1
Athena Diagnostics 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 0 0 0 0 1
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1

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